Recommendations for Clinical CYP2C19 Genotyping Allele Selection: A Report of the Association for Molecular Pathology.

Pharmacogenomics Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Bethesda, Maryland; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana. Electronic address: vpratt@iu.edu.

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Pharmacogenomics Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Bethesda, Maryland; Millennium Health, LLC, San Diego, California.

Pharmacogenomics Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Bethesda, Maryland; Department of Pathology and ARUP Laboratories, University of Utah School of Medicine, Salt Lake City, Utah.

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Pharmacogenomics Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Bethesda, Maryland; Division of Laboratory Systems, Centers for Disease Control and Prevention, Atlanta, Georgia.

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Pharmacogenomics Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Bethesda, Maryland; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York; Sema4, a Mount Sinai Venture, Stamford, Connecticut.

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Pharmacogenomics Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Bethesda, Maryland; Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina.

Abstract

This document was developed by the Pharmacogenomics (PGx) Working Group of the Association for Molecular Pathology Clinical Practice Committee, whose aim is to recommend variants for inclusion in clinical pharmacogenomic testing panels. The goals of the Association for Molecular Pathology PGx Working Group are to define the key attributes of PGx alleles recommended for clinical testing and to define a minimum set of variants that should be included in clinical PGx genotyping assays. These recommendations include a minimum panel of variant alleles (tier 1) and an extended panel of variant alleles (tier 2) that will aid clinical laboratories when designing PGx assays. The Working Group considered variant allele frequencies in different populations and ethnicities, the availability of reference materials, and other technical considerations for PGx testing when developing these recommendations. These CYP2C19 genotyping recommendations are the first of a series of recommendations for PGx testing. These recommendations are not to be interpreted as restrictive, but they are meant to provide a helpful guide.